rs148093673

This is a upstream gene variant variant in the SHBG gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of thialysine N-epsilon-acetyltransferase in blood

Allele T
OR 0.80
p 1.0e-174
N 47,745
Large GWAS
European

About SHBG

This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

View all SHBG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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